Canonical Allele Identifier: CA438369071

Gene: WFS1

Linked Data

• gnomAD v4: 4-6301530-C-T
• MyVariant Identifiers: chr4:g.6303257C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301530C>T , CM000666.2:g.6301530C>T	GRCh38
NC_000004.11:g.6303257C>T , CM000666.1:g.6303257C>T	GRCh37
NC_000004.10:g.6354158C>T	NCBI36
NG_011700.1:g.36681C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1771C>T	ENSP00000507852.1:p.Leu591=
ENST00000683395.1:c.1712C>T
ENST00000684087.1:c.1735C>T	ENSP00000506978.1:p.Leu579=
ENST00000506362.2:c.1486C>T	ENSP00000424103.2:p.Leu496=
ENST00000673642.1:c.1394C>T	ENSP00000501242.1:n.1394C>T
ENST00000673991.1:c.1771C>T	ENSP00000501033.1:p.Leu591=
ENST00000226760.5:c.1735C>T MANE Select	ENSP00000226760.1:p.Leu579=
ENST00000503569.5:c.1735C>T	ENSP00000423337.1:p.Leu579=
ENST00000507765.1:n.1920C>T
NM_001145853.1:c.1735C>T	NP_001139325.1:p.Leu579=
NM_006005.3:c.1735C>T MANE Select	NP_005996.2:p.Leu579=
XM_017008586.1:c.1744C>T	XP_016864075.1:p.Leu582=